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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
Mov. Disord. 22, 1640-1643 (2007)
To investigate the frequency of mutations in the Leucine-Rich Repeat Kinase 2 gene (LRRK2) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 additionally in 146 patients with idiopathic PD and 30 patients with dementia with Lewy bodies. Furthermore, all 192 patients were screened for 21 putative LRRK2 mutations. While the most common mutation G2019S and the risk variant G2385R were not found in our samples, we detected a novel missense mutation (S973N) in a patient with familial, late-onset and dopa-responsive PD.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
genetics; Parkinson's disease; LRRK2
ISSN (print) / ISBN
0885-3185
e-ISSN
1531-8257
Zeitschrift
Movement Disorders
Quellenangaben
Band: 22,
Heft: 11,
Seiten: 1640-1643
Verlag
Wiley
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)